rs570013781
This variant is located in the NPRL3 gene.
▶GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
mean corpuscular hemoglobin
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.69
p 1.0e-247
N 394,642
Large GWAS
European
erythrocyte count
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.35
p 5.0e-77
N 394,642
Large GWAS
European
mean corpuscular hemoglobin concentration
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.40
p 2.0e-56
N 394,642
Large GWAS
European
level of alpha-hemoglobin-stabilizing protein in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.76
p 1.0e-39
N 47,745
Large GWAS
European
Red cell distribution width
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.21
p 6.0e-22
N 394,642
Large GWAS
European
reticulocyte amount
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.21
p 1.0e-21
N 394,642
Large GWAS
European
hemoglobin measurement, hemoglobin A1 measurement
Danjou F et al. “Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.” Nature Genetics 47(11):1264-71 (2015)
Allele A
OR 0.20
p 6.0e-18
N 6,602
Large GWAS
European
hemoglobin measurement
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.61
p 8.0e-18
N 39,127
Large GWAS
European
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele A
OR 0.19
p 2.0e-10
N 684,122
Large GWAS
European
immature reticulocyte measurement
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.58
p 1.0e-15
N 38,711
Large GWAS
European
high density lipoprotein cholesterol measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.13
p 2.0e-12
N 394,642
Large GWAS
European
About NPRL3
Predicted to enable GTPase activator activity. Involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 3. [provided by Alliance of Genome Resources, Jul 2025]
View all NPRL3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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